ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.179C>T (p.Pro60Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005377147 SCV006039569 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-02-01 criteria provided, single submitter clinical testing The c.179C>T (p.P60L) alteration is located in exon 3 (coding exon 3) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 179, causing the proline (P) at amino acid position 60 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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